Canonical Allele Identifier: CA256130
Gene: HMGCL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11955
ClinVar RCV Id: RCV000012733
dbSNP Id: rs121964996

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23817520C>G , CM000663.2:g.23817520C>G GRCh38
NC_000001.9:g.24016597C>G NCBI36
NC_000001.10:g.24144010C>G , CM000663.1:g.24144010C>G GRCh37
NG_013061.1:g.12940G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000235958.4:n.131+2990G>C
ENST00000374487.6:c.*249G>C ENSP00000363611.2:p.=
ENST00000374490.7:c.208G>C ENSP00000363614.3:p.Val70Leu
ENST00000436439.6:c.208G>C ENSP00000389281.2:p.Val70Leu
ENST00000498698.1:n.14G>C
ENST00000509389.5:n.220G>C
ENST00000513148.1:n.209G>C
NM_000191.2:c.208G>C VV NP_000182.2:p.Val70Leu
NM_001166059.1:c.208G>C VV NP_001159531.1:p.Val70Leu